Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cleft lip or lips
|
phenotype |
|
Anatomical Abnormality
|
78
|
37
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2013 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Epithelial cyst
|
phenotype |
Neoplasms
|
Anatomical Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Malocclusion
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
128
|
10
|
0.100 |
None |
|
0 |
|
|
|
Distichiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of lateral incisor
|
phenotype |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal hair quantity
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal number of permanent teeth
|
phenotype |
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Metaplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
52
|
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2007 |
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
31
|
|
0.300 |
limited |
1.000 |
6 |
|
1998 |
2016 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.330 |
None |
1.000 |
4 |
2
|
2006 |
2019 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2017 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.030 |
None |
1.000 |
3 |
1
|
2009 |
2013 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.030 |
None |
1.000 |
3 |
1
|
2009 |
2013 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.030 |
None |
1.000 |
3 |
1
|
2009 |
2013 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.120 |
None |
1.000 |
2 |
1
|
2011 |
2013 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2020 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |